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Rd3

This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Group enriched (Cone photoreceptor cells, Bipolar cells, Rod photoreceptor cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (HEL, HMC-1, SH-SY5Y)

Interaction

Monomer (PubMed:30559291). Interacts with GUCY2D; negatively regulates its activity (PubMed:21928830, PubMed:26100624, PubMed:27471269, PubMed:30559291). The interaction with GUCY2D promotes the exit of GUCY2D from the endoplasmic reticulum and its trafficking to the photoreceptor outer segments (PubMed:21078983). Interacts with GUCY2F (By similarity). The interaction with GUCY2F negatively regulates GUCY2F activity (PubMed:29515371). The interaction with GUCY2F promotes the exit of GUCY2F from the endoplasmic reticulum and its trafficking to the photoreceptor outer segments (PubMed:21078983). Interacts with GUK1; up-regulates GUK1 activity (PubMed:29515371).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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